Mutation analysis of the MCM gene in Israeli patients with mut0 disease

Itai Berger, Avraham Shaag, Yair Anikster, E. Regula Baumgartner, Maskit Bar-Meir, Adina Joseph, Orly N. Elpeleg

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


Three novel mutations (IVS8+3a → g, N219Y, and E414X) were identified in 6 unrelated patients with mut0 methylmalonic aciduria. The presence of a wild-type along with rearranged fragments in homozygotes for the IVS8+3a → g mutation may contribute to their later age of onset (3-11 months of age). Nonetheless, delayed onset was not associated with better neurological outcome and prolonged survival. The large number of undiagnosed dead sibs in most families suggests that the disease is largely underdiagnosed in this region.

Original languageEnglish
Pages (from-to)107-110
Number of pages4
JournalMolecular Genetics and Metabolism
Issue number1
StatePublished - 1 Jan 2001
Externally publishedYes


  • Methylmalonyl-CoA mutase
  • Mut methylmalonic acidemia

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology


Dive into the research topics of 'Mutation analysis of the MCM gene in Israeli patients with mut0 disease'. Together they form a unique fingerprint.

Cite this